Key result
Truncating variants in the TTN gene are the most frequent genetic cause of dilated cardiomyopathy, accounting for up to 25% of familial cases and 18% of sporadic cases.
Why the study?
TTN truncating variants are the most common genetic cause of DCM, but their clinical interpretation is complicated by incomplete penetrance and variable expressivity.
Understanding TTN truncating variants in dilated cardiomyopathy is crucial for diagnosis, family screening, and predicting a favorable reverse remodeling response to standard heart failure therapy.
May guide genetic screening for DCM prognosis; leaves open whether TTN status should direct therapy.
Titin, encoded by the TTN gene, is the largest human protein, essential for maintaining muscle cell stability and regulating myocardial contraction. TTN truncating variants (TTNtv) have emerged as the most common genetic cause of dilated cardiomyopathy (DCM), accounting for up to 25% of familial cases and 18% of sporadic cases. This review examines the complex relationship between TTN variants and DCM, highlighting the challenges posed by incomplete penetrance and variable expressivity. While truncating variants primarily in the A-band region [...]
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Furquim et al. (2024) conducted a review in Dilated Cardiomyopathy. TTN Gene Variants was evaluated. Truncating variants in the TTN gene are the most frequent genetic cause of dilated cardiomyopathy, accounting for up to 25% of familial cases and 18% of sporadic cases.
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